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Disease Profile

Branchiooculofacial syndrome

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Neonatal

ICD-10

Q18.8

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

BOFS syndrome; Branchial clefts with characteristic facies growth retardation imperforate nasolacrimal duct and premature aging; Hemangiomatous branchial clefts-lip pseudocleft syndrome;

Categories

Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Mouth Diseases

Summary

Branchiooculofacial syndrome (BOFS) is a very rare genetic disorder that is apparent at birth. Only about 50 cases of BOFS had been reported in the medical literature. Like its name implies, BOFS is characterized by skin defects, eye abnormalities, and distinctive facial features. Among the reported cases thus far, the symptoms may vary from mild to severe. BOFS is caused by mutations in the TFAP2A gene and inherited as an autosomal dominant trait.[1][2][3]

Symptoms

The characteristic signs and symptoms of BOFS include skin defects, eye abnormalities, and distinctive facial features. These features vary among affected individuals. The skin defects include proliferation of blood vessels (hemangiomatous) in the lower neck or upper chest; lumps in the area of the neck or collarbone (branchial cleft sinuses); and linear skin lesions behind the ears. Eye abnormalities can include microphthalmia, coloboma, and strabismus. The distinctive facial features can include widely spaced eyes; the presence of a pseudocleft of the upper lip resembling a poorly repaired cleft lip; a malformed nose with a broad bridge and flattened tip; blockage of the tear ducts (lacrimal duct obstruction); and malformed ears. Often, affected individuals may have burn-like lesions behind the ears. Other features can include delayed growth, thymic and kidney abnormalities, dental abnormalities, and hearing loss. Intellect is usually normal.[1][2][3]

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormality of the pinna
Abnormally shaped ears
Auricular malformation
Deformed ears
Malformed ears

[ more ]

0000377
Atypical scarring of skin
Atypical scarring
0000987
Conductive hearing impairment
Conductive deafness
Conductive hearing loss

[ more ]

0000405
Deep philtrum
0002002
Everted lower lip vermilion
Drooping lower lip
Outward turned lower lip

[ more ]

0000232
Hemangioma
Strawberry mark
0001028
Low-set, posteriorly rotated ears
0000368
Postauricular pit
Pit behind the ear
0004464
Preauricular pit
Pit in front of the ear
0004467
Supraauricular pit
Pit above the ear
0008606
30%-79% of people have these symptoms
Broad nasal tip
Broad tip of nose
Broad, upturned nose
Increased breadth of nasal tip
Increased breadth of tip of nose
Increased width of nasal tip
Increased width of tip of nose
Nasal tip, broad
Nasal tip, wide
Wide tip of nose

[ more ]

0000455
Dolichocephaly
Long, narrow head
Tall and narrow skull

[ more ]

0000268
Fingernail dysplasia
Abnormal fingernail development
0100798
High palate
Elevated palate
Increased palatal height

[ more ]

0000218
Intrauterine growth retardation
Prenatal growth deficiency
Prenatal growth retardation

[ more ]

0001511
Iris coloboma
Cat eye
0000612
Microdontia
Decreased width of tooth
0000691
Nasal speech
Nasal voice
0001611
Nasolacrimal duct obstruction
Blocked tear duct
0000579
Neurological speech impairment
Speech disorder
Speech impairment
Speech impediment

[ more ]

0002167
Non-midline cleft lip
0100335
Premature graying of hair
Early graying
Premature graying
Premature greying
Premature hair graying

[ more ]

0002216
Reduced number of teeth
Decreased tooth count
0009804
Short stature
Decreased body height
Small stature

[ more ]

0004322
Upslanted palpebral fissure
Upward slanting of the opening between the eyelids
0000582
Wide nasal bridge
Broad nasal bridge
Broad nasal root
Broadened nasal bridge
Increased breadth of bridge of nose
Increased breadth of nasal bridge
Increased width of bridge of nose
Increased width of nasal bridge
Nasal bridge broad
Wide bridge of nose
Widened nasal bridge

[ more ]

0000431
5%-29% of people have these symptoms
Cataract
Clouding of the lens of the eye
Cloudy lens

[ more ]

0000518
Hydronephrosis
0000126
Microcornea
Cornea of eye less than 10mm in diameter
0000482
Multicystic kidney dysplasia
0000003
Preaxial hand polydactyly
Extra thumb
0001177
Ptosis
Drooping upper eyelid
0000508
Renal agenesis
Absent kidney
Missing kidney

[ more ]

0000104
Strabismus
Cross-eyed
Squint
Squint eyes

[ more ]

0000486
Upper lip pit
0100268
1%-4% of people have these symptoms
Cleft of chin
0011323
Dimple chin
Chin butt
Chin dent
Chin dimple
Chin skin dimple
Indentation of chin

[ more ]

0010751
Facial palsy
Bell's palsy
0010628
Hearing impairment
Deafness
Hearing defect

[ more ]

0000365
Microphthalmia
Abnormally small eyeball
0000568
Postnatal growth retardation
Growth delay as children
0008897
Retinal coloboma
Hole in the back of the eye
0000480
Sparse hair
0008070
Percent of people who have these symptoms is not available through HPO
Abnormality of the dentition
Abnormal dentition
Abnormal teeth
Dental abnormality

[ more ]

0000164
Agenesis of cerebellar vermis
0002335
Anophthalmia
Absence of eyeballs
Failure of development of eyeball
Missing eyeball
No eyeball

[ more ]

0000528
Aplasia cutis congenita
Absence of part of skin at birth
0001057
Autosomal dominant inheritance
0000006
Branchial anomaly
0009794
Cleft palate
Cleft roof of mouth
0000175
Cleft upper lip
Harelip
0000204
Clinodactyly of the 5th finger
Permanent curving of the pinkie finger
0004209
Cryptorchidism
Undescended testes
Undescended testis

[ more ]

0000028
Depressed nasal bridge

Diagnosis

BOFS can be diagnosed clinically based on the characteristic features of this condition. Genetic testing can also confirm the diagnosis.[3] GeneTests lists the names of laboratories that are performing genetic testing for branchiooculofacial syndrome. To view the contact information for the clinical laboratories conducting testing, click here. To access the contact information for the research laboratories performing genetic testing, click here.

Please note: Most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

    Organizations

    Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

    Organizations Supporting this Disease

      Learn more

      These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

      Where to Start

      • Genetics Home Reference (GHR) contains information on Branchiooculofacial syndrome. This website is maintained by the National Library of Medicine.
      • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

        In-Depth Information

        • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
        • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
        • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
        • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
        • PubMed is a searchable database of medical literature and lists journal articles that discuss Branchiooculofacial syndrome. Click on the link to view a sample search on this topic.

          References

          1. Branchio Oculo Facial Syndrome. National Organization for Rare Disorders (NORD). 2007; https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/714/viewAbstract. Accessed 6/23/2011.
          2. Branchio-oculo-facial syndrome. Orphanet. January 2009; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1297. Accessed 6/23/2011.
          3. Lin AAE & Milunsky JM. Branchiooculofacial Syndrome. GeneReviews. May 31, 2011; https://www.ncbi.nlm.nih.gov/books/NBK55063/. Accessed 6/23/2011.

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